Journal article
Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study
P May, S Girard, M Harrer, DR Bobbili, J Schubert, S Wolking, F Becker, P Lachance-Touchette, C Meloche, M Gravel, CE Niturad, J Knaus, C De Kovel, M Toliat, A Polvi, M Iacomino, R Guerrero-López, S Baulac, C Marini, J Altmüller Show all
Lancet Neurology | ELSEVIER SCIENCE INC | Published : 2018
Abstract
Background: Genetic generalised epilepsy is the most common type of inherited epilepsy. Despite a high concordance rate of 80% in monozygotic twins, the genetic background is still poorly understood. We aimed to investigate the burden of rare genetic variants in genetic generalised epilepsy. Methods: For this exome-based case-control study, we used three different genetic generalised epilepsy case cohorts and three independent control cohorts, all of European descent. Cases included in the study were clinically evaluated for genetic generalised epilepsy. Whole-exome sequencing was done for the discovery case cohort, a validation case cohort, and two independent control cohorts. The replicati..
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Awarded by Ministerio de Ciencia, Innovación y Universidades
Funding Acknowledgements
EuroEPINOMICS (European Science Foundation through national funding organisations), Epicure and EpiPGX (Sixth Framework Programme and Seventh Framework Programme of the European Commission), Research Unit FOR2715 (German Research Foundation and Luxembourg National Research Fund).